ClinVar Miner

List of variants in gene combination HSPG2, LDLRAD2 reported as benign for autosomal recessive disease

Included ClinVar conditions (1196):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005529.7(HSPG2):c.13050A>G (p.Ser4350=) rs897467 0.78919
NM_001013693.3(LDLRAD2):c.*475G>C rs1049644 0.29929
NM_005529.7(HSPG2):c.12992G>A (p.Ser4331Asn) rs3736360 0.14722
NM_005529.7(HSPG2):c.12994G>A (p.Val4332Ile) rs1138469 0.04935
NM_001013693.3(LDLRAD2):c.*109G>A rs1049675 0.03248
NM_001013693.3(LDLRAD2):c.*365G>A rs116354301 0.01017
NM_001013693.3(LDLRAD2):c.*671C>T rs141025054 0.00933
NM_005529.7(HSPG2):c.13119C>T (p.Pro4373=) rs2229477 0.00898
NM_005529.7(HSPG2):c.12801G>T (p.Gly4267=) rs79386413 0.00828
NM_001013693.3(LDLRAD2):c.*2087C>T rs117182812 0.00420
NM_005529.7(HSPG2):c.13088C>T (p.Ser4363Leu) rs62642502 0.00312
NM_005529.7(HSPG2):c.12874G>A (p.Glu4292Lys) rs141280063 0.00135
NM_005529.7(HSPG2):c.12952C>A (p.Arg4318=) rs3736358

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.